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Article

Bruton's tyrosine kinase mutations in 8 Chinese families with X-linked agammaglobulinemia.

Human mutation - 1 Apr 2000

Yip K L, Chan S Y, Ip W K, Lau Y L

Abstract excerpt

Bruton's tyrosine kinase (BTK) is involved in B-cell development. Mutation of BTK results in X-linked agammaglobulinemia (XLA). BTK is expressed in most haemopoietic lineages except mature T cells and plasma cells. We identified six novel and two known mutations of BTK in 11 Chinese XLA patients from 8 families. Family 1 had a novel point mutation at the start codon (135G-->T) in exon 2. Family 2 had known...

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Source

Identifiers

PMID: 10737994
DOI: 10.1002/(SICI)1098-1004(200004)15:4<385::AID-HUMU21>3.0.CO;2-D

Genes

BTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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